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Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow–pancreas syndrome

✍ Scribed by van den Ouweland, J M W; de Klerk, J B C; van de Corput, M P; Dirks, R W; Raap, A K; Scholte, H R; Huijmans, J G M; 't Hart, L M; Bruining, G J; Maassen, J A


Book ID
110024939
Publisher
Nature Publishing Group
Year
2000
Tongue
English
Weight
373 KB
Volume
8
Category
Article
ISSN
1018-4813

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✍ Lacbawan, Felicitas ;Tifft, Cynthia J. ;Luban, Naomi L.C. ;Schmandt, Susanne M. 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 119 KB 👁 2 views

The clinical presentation of mitochondrial DNA (mtDNA) disorders is quite diverse. Very often, the initial symptoms do not fit a specific disease, and diagnosis is difficult to make. We describe a patient who presented with macrocytic anemia. Extensive biochemical and clinical work-up failed to prov